Chromosome 13 and chromosome 2 (CA)n polymorphisms

Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries.

American journal of human genetics·2022

Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI.

International journal of obesity (2005)·2018

Genetic studies of human apolipoproteins: XII. Population genetics of apolipoproteins in Papua New Guinea.

American journal of human biology : the official journal of the Human Biology Council·2017

Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations.

International journal of obesity (2005)·2016

Novel HLA-DP region susceptibility loci associated with severe acute GvHD.

Bone marrow transplantation·2016

Association between amygdala reactivity and a dopamine transporter gene polymorphism.

Translational psychiatry·2014

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Human molecular genetics·2026

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Human molecular genetics·2026

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Human molecular genetics·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

Human molecular genetics·2026

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Human molecular genetics·2026

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Italian journal of pediatrics·2026

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Diabetes·2026

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

Frontiers in genetics·2026

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Journal of biomedical science·2026

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

BMC medical genomics·2026

The first 25 years of the NICHD Structural Birth Defects Initiative.

Developmental biology·2026

Related Experiment Videos

Chromosome 13 and chromosome 2 (CA)n polymorphisms

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Enrichment analyses identify shared associations for 25 quantitative traits in over 600,000 individuals from seven diverse ancestries.

Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI.

Genetic studies of human apolipoproteins: XII. Population genetics of apolipoproteins in Papua New Guinea.

Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations.

Novel HLA-DP region susceptibility loci associated with severe acute GvHD.

Association between amygdala reactivity and a dopamine transporter gene polymorphism.

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

A patient-derived mouse model reproduces molecular, neurological, and sleep symptoms of SHINE syndrome.

The potential regulatory relationship between hsa_circ_0000973 and MBOAT2 in hypertriglyceridemia with abnormal glucose metabolism.

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

The first 25 years of the NICHD Structural Birth Defects Initiative.

Related Experiment Videos

Chromosome 13 and chromosome 2 (CA)n polymorphisms

Related Concept Videos

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